CRISPR/Cas9 technology generated a 1.4 kb deletion that includes the 43 nucleotide muscle-specific exon. Western blot analysis confirmed the expression of the non-muscle isoform. (J:286588)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count